Neurodevelopmental functions of CHD8: new insights and questions
dc.contributor.author | Basson, MA | |
dc.date.accessioned | 2024-05-07T09:59:04Z | |
dc.date.issued | 2024-01-30 | |
dc.date.updated | 2024-05-03T16:09:41Z | |
dc.description.abstract | Heterozygous, de novo, loss-of-function variants of the CHD8 gene are associated with a high penetrance of autism and other neurodevelopmental phenotypes. Identifying the neurodevelopmental functions of high-confidence autism risk genes like CHD8 may improve our understanding of the neurodevelopmental mechanisms that underlie autism spectrum disorders. Over the last decade, a complex picture of pleiotropic CHD8 functions and mechanisms of action has emerged. Multiple brain and non-brain cell types and progenitors appear to be affected by CHD8 haploinsufficiency. Behavioural, cellular and synaptic phenotypes are dependent on the nature of the gene mutation and are modified by sex and genetic background. Here, I review some of the CHD8-interacting proteins and molecular mechanisms identified to date, as well as the impacts of CHD8 deficiency on cellular processes relevant to neurodevelopment. I endeavour to highlight some of the critical questions that still require careful and concerted attention over the next decade to bring us closer to the goal of understanding the salient mechanisms whereby CHD8 deficiency causes neurodevelopmental disorders. | en_GB |
dc.description.sponsorship | Medical Research Council (MRC) | en_GB |
dc.format.extent | 15-27 | |
dc.identifier.citation | Vol. 52(1), pp. 15-27 | en_GB |
dc.identifier.doi | https://doi.org/10.1042/BST20220926 | |
dc.identifier.grantnumber | MR/Y008170/1 | en_GB |
dc.identifier.grantnumber | MR/X010481/1 | en_GB |
dc.identifier.grantnumber | MR/V013173/1 | en_GB |
dc.identifier.uri | http://hdl.handle.net/10871/135887 | |
dc.language.iso | en | en_GB |
dc.publisher | Portland Press / Biochemical Society | en_GB |
dc.relation.url | https://www.ncbi.nlm.nih.gov/pubmed/38288845 | en_GB |
dc.rights | © 2024 The Author(s). This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY). | en_GB |
dc.subject | CHD8 | en_GB |
dc.subject | autism | en_GB |
dc.subject | chromatin | en_GB |
dc.subject | intellectual disability | en_GB |
dc.subject | neurodevelopmental disorders | en_GB |
dc.title | Neurodevelopmental functions of CHD8: new insights and questions | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2024-05-07T09:59:04Z | |
dc.identifier.issn | 0300-5127 | |
exeter.place-of-publication | England | |
dc.description | This is the final version. Available on open access from Portland Press via the DOI in this record | en_GB |
dc.identifier.eissn | 1470-8752 | |
dc.identifier.journal | Biochemical Society Transactions | en_GB |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | en_GB |
dcterms.dateAccepted | 2024-01-05 | |
dc.rights.license | CC BY | |
rioxxterms.version | VoR | en_GB |
rioxxterms.licenseref.startdate | 2024-01-30 | |
rioxxterms.type | Journal Article/Review | en_GB |
refterms.dateFCD | 2024-05-07T09:16:46Z | |
refterms.versionFCD | VoR | |
refterms.dateFOA | 2024-05-07T09:59:13Z | |
refterms.panel | A | en_GB |
refterms.dateFirstOnline | 2024-01-30 |
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Except where otherwise noted, this item's licence is described as © 2024 The Author(s). This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY).